Incidental Mutation 'R7285:Inpp5e'
| ID |
565919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp5e
|
| Ensembl Gene |
ENSMUSG00000026925 |
| Gene Name |
inositol polyphosphate-5-phosphatase E |
| Synonyms |
1200002L24Rik, 72kDa |
| MMRRC Submission |
045393-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7285 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
26286261-26299215 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26287870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 642
(A642V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119485
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076431]
[ENSMUST00000114090]
[ENSMUST00000114093]
[ENSMUST00000145701]
|
| AlphaFold |
Q9JII1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076431
|
| SMART Domains |
Protein: ENSMUSP00000075762
Gene: ENSMUSG00000026926
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M16
|
76 |
226 |
4.5e-47 |
PFAM |
|
Pfam:Peptidase_M16_C
|
231 |
430 |
4.1e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114090
|
| SMART Domains |
Protein: ENSMUSP00000109724
Gene: ENSMUSG00000026925
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
277 |
294 |
N/A |
INTRINSIC |
|
IPPc
|
300 |
602 |
1.27e-62 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114093
|
| SMART Domains |
Protein: ENSMUSP00000109727
Gene: ENSMUSG00000026926
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M16
|
76 |
226 |
1.6e-47 |
PFAM |
|
Pfam:Peptidase_M16_C
|
231 |
420 |
9.6e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131109
|
| SMART Domains |
Protein: ENSMUSP00000118739
Gene: ENSMUSG00000026925
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Exo_endo_phos
|
4 |
88 |
6.4e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144011
|
| SMART Domains |
Protein: ENSMUSP00000123272
Gene: ENSMUSG00000026925
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
|
IPPc
|
21 |
206 |
1.76e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145701
AA Change: A642V
PolyPhen 2
Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000119485
Gene: ENSMUSG00000026925
AA Change: A642V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
277 |
294 |
N/A |
INTRINSIC |
|
IPPc
|
300 |
602 |
1.27e-62 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (58/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null mutation display signs of ciliopathies including prenatal and perinatal lethality, polycystic kidneys, arrest of eye development, abnormalities in primary cilia, cerebral developmental defects, and skeletal defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,388,314 (GRCm39) |
C185* |
probably null |
Het |
| Abcc3 |
C |
T |
11: 94,247,873 (GRCm39) |
A1207T |
probably benign |
Het |
| Adam1b |
T |
G |
5: 121,639,056 (GRCm39) |
D663A |
probably damaging |
Het |
| Arhgap12 |
A |
T |
18: 6,111,920 (GRCm39) |
L148Q |
probably damaging |
Het |
| Cdh4 |
A |
T |
2: 179,439,258 (GRCm39) |
Q135L |
probably benign |
Het |
| Clca3b |
T |
C |
3: 144,543,519 (GRCm39) |
I437V |
probably benign |
Het |
| Cldn15 |
A |
T |
5: 137,001,327 (GRCm39) |
H124L |
probably benign |
Het |
| Cyp4a30b |
T |
C |
4: 115,313,848 (GRCm39) |
M143T |
probably damaging |
Het |
| Dgcr2 |
A |
T |
16: 17,662,944 (GRCm39) |
C353* |
probably null |
Het |
| Dhcr24 |
T |
A |
4: 106,428,716 (GRCm39) |
|
probably null |
Het |
| Dock1 |
T |
G |
7: 134,346,737 (GRCm39) |
L223R |
probably benign |
Het |
| Ece1 |
T |
A |
4: 137,641,074 (GRCm39) |
|
probably null |
Het |
| Efcab5 |
A |
G |
11: 77,028,170 (GRCm39) |
V387A |
probably benign |
Het |
| Efcab5 |
A |
G |
11: 77,029,041 (GRCm39) |
F97L |
possibly damaging |
Het |
| Eme2 |
A |
T |
17: 25,113,543 (GRCm39) |
|
probably null |
Het |
| Enpp1 |
G |
A |
10: 24,536,059 (GRCm39) |
T447I |
probably benign |
Het |
| Fam222b |
T |
C |
11: 78,034,007 (GRCm39) |
S17P |
probably benign |
Het |
| Fbln1 |
A |
G |
15: 85,121,829 (GRCm39) |
I317V |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,676,498 (GRCm39) |
K578E |
probably damaging |
Het |
| Fscb |
A |
T |
12: 64,518,323 (GRCm39) |
S1048T |
unknown |
Het |
| Fsd1l |
T |
A |
4: 53,682,200 (GRCm39) |
|
probably null |
Het |
| Hexa |
T |
A |
9: 59,471,222 (GRCm39) |
I492K |
probably benign |
Het |
| Ints11 |
C |
T |
4: 155,970,568 (GRCm39) |
A241V |
probably damaging |
Het |
| Irs2 |
A |
G |
8: 11,056,797 (GRCm39) |
L545P |
probably damaging |
Het |
| Katnal2 |
G |
A |
18: 77,081,271 (GRCm39) |
A409V |
probably benign |
Het |
| Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
| Lbx2 |
A |
G |
6: 83,064,877 (GRCm39) |
K138R |
probably damaging |
Het |
| Lcor |
A |
G |
19: 41,572,754 (GRCm39) |
K503R |
possibly damaging |
Het |
| Lpp |
G |
A |
16: 24,796,029 (GRCm39) |
A558T |
probably damaging |
Het |
| Lypla1 |
T |
C |
1: 4,911,321 (GRCm39) |
I202T |
probably benign |
Het |
| Magi3 |
G |
A |
3: 103,941,430 (GRCm39) |
P842S |
probably benign |
Het |
| Meioc |
G |
A |
11: 102,557,168 (GRCm39) |
V25M |
probably benign |
Het |
| Mthfr |
C |
T |
4: 148,138,056 (GRCm39) |
T557I |
probably benign |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Or2t44 |
T |
A |
11: 58,677,310 (GRCm39) |
Y83* |
probably null |
Het |
| Or5d20-ps1 |
A |
T |
2: 87,932,049 (GRCm39) |
I94N |
probably damaging |
Het |
| Osbpl10 |
A |
T |
9: 115,052,771 (GRCm39) |
I440F |
probably damaging |
Het |
| Otx2 |
G |
A |
14: 48,898,922 (GRCm39) |
A36V |
probably benign |
Het |
| Parg |
A |
G |
14: 31,932,465 (GRCm39) |
Y435C |
probably damaging |
Het |
| Parvb |
A |
T |
15: 84,166,985 (GRCm39) |
D100V |
possibly damaging |
Het |
| Prss27 |
A |
G |
17: 24,264,665 (GRCm39) |
H276R |
probably benign |
Het |
| Prune1 |
T |
A |
3: 95,162,357 (GRCm39) |
S439C |
probably damaging |
Het |
| Pudp |
C |
G |
18: 50,701,287 (GRCm39) |
E149Q |
possibly damaging |
Het |
| Qng1 |
T |
C |
13: 58,532,199 (GRCm39) |
Y119C |
probably damaging |
Het |
| Sin3a |
C |
A |
9: 57,034,583 (GRCm39) |
T1252N |
possibly damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,787,471 (GRCm39) |
D927G |
probably benign |
Het |
| Stx18 |
C |
T |
5: 38,262,251 (GRCm39) |
T89I |
possibly damaging |
Het |
| Ticrr |
T |
C |
7: 79,310,610 (GRCm39) |
S175P |
possibly damaging |
Het |
| Tinag |
T |
C |
9: 76,952,943 (GRCm39) |
T14A |
probably benign |
Het |
| Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
G |
T |
7: 63,859,729 (GRCm39) |
E396* |
probably null |
Het |
| Txndc11 |
A |
G |
16: 10,902,163 (GRCm39) |
Y684H |
probably damaging |
Het |
| Usp47 |
G |
A |
7: 111,692,315 (GRCm39) |
E926K |
probably benign |
Het |
| Vmn1r233 |
A |
G |
17: 21,214,221 (GRCm39) |
I243T |
probably damaging |
Het |
| Ythdf3 |
T |
A |
3: 16,258,049 (GRCm39) |
|
probably null |
Het |
| Zfp12 |
A |
G |
5: 143,230,444 (GRCm39) |
K289R |
probably damaging |
Het |
| Zfp950 |
T |
A |
19: 61,107,550 (GRCm39) |
H511L |
probably benign |
Het |
|
| Other mutations in Inpp5e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00236:Inpp5e
|
APN |
2 |
26,298,533 (GRCm39) |
missense |
probably benign |
|
|
IGL00943:Inpp5e
|
APN |
2 |
26,290,163 (GRCm39) |
splice site |
probably benign |
|
|
IGL01518:Inpp5e
|
APN |
2 |
26,287,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0212:Inpp5e
|
UTSW |
2 |
26,298,352 (GRCm39) |
splice site |
probably null |
|
|
R1818:Inpp5e
|
UTSW |
2 |
26,287,886 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1876:Inpp5e
|
UTSW |
2 |
26,298,169 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2508:Inpp5e
|
UTSW |
2 |
26,289,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4175:Inpp5e
|
UTSW |
2 |
26,290,937 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4647:Inpp5e
|
UTSW |
2 |
26,297,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4668:Inpp5e
|
UTSW |
2 |
26,291,006 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4895:Inpp5e
|
UTSW |
2 |
26,287,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4908:Inpp5e
|
UTSW |
2 |
26,290,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5090:Inpp5e
|
UTSW |
2 |
26,289,383 (GRCm39) |
splice site |
probably null |
|
|
R5096:Inpp5e
|
UTSW |
2 |
26,289,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5830:Inpp5e
|
UTSW |
2 |
26,290,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Inpp5e
|
UTSW |
2 |
26,297,860 (GRCm39) |
nonsense |
probably null |
|
|
R6899:Inpp5e
|
UTSW |
2 |
26,290,060 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6939:Inpp5e
|
UTSW |
2 |
26,297,774 (GRCm39) |
splice site |
probably null |
|
|
R7003:Inpp5e
|
UTSW |
2 |
26,287,877 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7164:Inpp5e
|
UTSW |
2 |
26,297,995 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7275:Inpp5e
|
UTSW |
2 |
26,298,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7468:Inpp5e
|
UTSW |
2 |
26,298,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7873:Inpp5e
|
UTSW |
2 |
26,297,957 (GRCm39) |
nonsense |
probably null |
|
|
R8032:Inpp5e
|
UTSW |
2 |
26,286,865 (GRCm39) |
missense |
|
|
|
R8146:Inpp5e
|
UTSW |
2 |
26,289,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9227:Inpp5e
|
UTSW |
2 |
26,288,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Inpp5e
|
UTSW |
2 |
26,287,940 (GRCm39) |
missense |
probably benign |
|
|
R9706:Inpp5e
|
UTSW |
2 |
26,292,126 (GRCm39) |
missense |
probably benign |
0.21 |
|
RF002:Inpp5e
|
UTSW |
2 |
26,298,389 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0061:Inpp5e
|
UTSW |
2 |
26,292,159 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTATAAATGTCCTGAGGGCTG -3'
(R):5'- AGTGAAGTTGAGGCCAGCTC -3'
Sequencing Primer
(F):5'- CCTGAGGGCTGGGTCTG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation